There are major challenges associated with working in the genomic medicine industry: data silos, lack of interoperability and preserving patient privacy. Although large-scale data-sharing efforts hold enormous potential for driving the field forward, the infrastructure required to achieve that ambitious goal does not exist.
Download this case study to learn how two scientists established a variant curation and sharing project that:
- Can help clinical genetic testing labs safely share structured insights on germline variants in disease genes
- Can Identify and resolve discordances in variant classification
- Was used to identify a variant as the recessive condition in a critically ill infant with an unknown condition
